Canonical Allele Identifier: CA645595309
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031537dup , CM000674.2:g.6031537dup GRCh38
NC_000012.11:g.6140703dup , CM000674.1:g.6140703dup GRCh37
NC_000012.10:g.6010964dup NCBI36
NG_009072.1:g.98137dup
NG_009072.2:g.98137dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2730dup MANE Select ENSP00000261405.5:p.Asn911GlufsTer2
ENST00000261405.9:c.2730dup ENSP00000261405.5:p.Asn911GlufsTer2
ENST00000538635.5:n.421-37600dup
NM_000552.3:c.2730dup NP_000543.2:p.Asn911GlufsTer2
NM_000552.4:c.2730dup NP_000543.2:p.Asn911GlufsTer2
NM_000552.5:c.2730dup MANE Select NP_000543.3:p.Asn911GlufsTer2